Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Özden Öztürk"'
Publikováno v:
Clinical Case Reports, Vol 9, Iss 4, Pp 1973-1976 (2021)
Abstract Ellis‐van Creveld syndrome 10‐year‐old Turkish girl and her parents were first degree cousins. A novel pathogenic variant (p.Glu1178Glyfs*82) was detected in the EVC2 gene in patient. She had no peg‐shaped teeth, multiple frenula, an
Externí odkaz:
https://doaj.org/article/6afd816257614977ad2fcb66ab344d28
Publikováno v:
Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3d381806947fa3cbdbbe8377189a0f0d
https://doi.org/10.26650/iuitfd.1210689
https://doi.org/10.26650/iuitfd.1210689
Publikováno v:
Erwerbs-Obstbau. 65:127-132
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::288a539087e39d551605290c492ca366
https://doi.org/10.1007/s10341-022-00675-w
https://doi.org/10.1007/s10341-022-00675-w
Publikováno v:
Molecular Syndromology. 13:246-253
Spinal muscular atrophy, X-linked 2 (SMAX2) is a rare type of spinal muscular atrophy characterized by muscle weakness, hypotonia, areflexia, myopathic face, tongue fibrillations, contractures, bone fractures, and cryptorchidism. Variants of the UBA1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f393e88cc0d2bbb94c9eefee546f075d
https://doi.org/10.1159/000519640
https://doi.org/10.1159/000519640
Autor:
Esra Yılmaz, Özden Öztürk
Publikováno v:
Selcuk Journal of Agricultural and Food Sciences.
This research was carried out to determine the effect of different nitrogen doses on yield and yield components of winter canola cultivars in Konya conditions during the winter canola growing vegetation period of 2019-2020. Three winter canola cultiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4bc130d5d8c8fe6a208793ed47cefe77
https://doi.org/10.15316/sjafs.2022.059
https://doi.org/10.15316/sjafs.2022.059
Publikováno v:
Journal of Pediatric Genetics.
Copy number variation in loss of 7q21 is a genetic disorder characterized by split hand/foot malformation, hearing loss, developmental delay, myoclonus, dystonia, joint laxity, and psychiatric disorders. Osteogenesis imperfecta caused by whole gene d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::db41c70f90e07bfef0b3fc5b09aba66a
https://doi.org/10.1055/s-0041-1736613
https://doi.org/10.1055/s-0041-1736613
Autor:
Özlem Örs, Özden Öztürk
Publikováno v:
Selcuk Journal of Agricultural and Food Sciences. 32:305-311
Bu arastirma, bazi yag keteni (Linum usitatissimum L.) cesitlerinin Konya kosullarinda verim ve verim unsurlarini belirlemek amaciyla, 2016 yili vejetasyon doneminde (Nisan-Agustos) yurutulmustur. Materyal olarak 1 adet yerli tescilli (Sari-85) ve 12
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::134dcb165eddf4a426505a8c0737a002
https://doi.org/10.15316/sjafs.2018.98
https://doi.org/10.15316/sjafs.2018.98
Autor:
Özden Öztürk, Kerim Çetin
Publikováno v:
Selcuk Journal of Agricultural and Food Sciences. 32:282-288
Arastirma; bazi hibrit aycicegi cesitlerinin Konya kosullarinda verim ve verim unsurlarini belirlemek amaciyla yapilmistir. Arastirmada materyal olarak bazi tescil edilmis ve uretim izni alinmis onbes farkli piyasa cesidi (LG 5400-EKLLOR-LG5580-PR64G
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5dc9d2823ca38b460cb133e2765d8f07
https://doi.org/10.15316/sjafs.2018.95
https://doi.org/10.15316/sjafs.2018.95
Here we report a Turkish child with Ellis-van Creveld syndrome whose presentation was short strature, hypodontia, narrow thorax, dysplastic nails, cardiac abnormality and polydactyly. Genetic analysis revealed novel homozygous mutation in the EVC2 ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::97d3e73f1a3f6c4b479b6e591bad01ae
https://doi.org/10.22541/au.160839989.99464782/v1
https://doi.org/10.22541/au.160839989.99464782/v1
Publikováno v:
J Pediatr Genet
The Cornelia de Lange syndrome (CdLS) is a genetic disorder characterized by multisystemic malformations. CdLS is due to mutations in one of the following genes: NIPBL, SMC1A, SMC3, RAD21, and HDAC8. On the other hand, 10q11.2 deletions cause a wide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca5b431d1339ac4eba0fae37d97cfdf6
https://europepmc.org/articles/PMC9385250/
https://europepmc.org/articles/PMC9385250/